Canonical Allele Identifier: CA915949347
Gene: FA2H HGNC NCBI
gnomAD v4:
chr16-74774586-TCCTGGCCCGC-T
Joint Max Group AF 6.9e-7 (NFE)
Exomes Max Group AF 7.4e-7 (NFE)
ClinVar RCV:
RCV000989634
ClinVar Variation:
803272
dbSNP:
794729214
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.74774597_74774606del , CM000678.2:g.74774597_74774606del GRCh38
NC_000016.9:g.74808495_74808504del , CM000678.1:g.74808495_74808504del GRCh37
NC_000016.8:g.73365996_73366005del NCBI36
NG_017070.1:g.5236_5245del

Transcript Alleles

HGVS Amino-acid Change
ENST00000219368.8:c.160_169del MANE Select ENSP00000219368.3:p.Ala54ThrfsTer?
ENST00000219368.7:c.160_169del ENSP00000219368.3:p.Ala54ThrfsTer?
ENST00000567683.5:c.160_169del ENSP00000455126.1:p.Ala54ThrfsTer?
NM_024306.4:c.160_169del NP_077282.3:p.Ala54ThrfsTer?
XM_011523317.1:c.160_169del XP_011521619.1:p.Ala54ThrfsTer?
XM_011523318.1:c.160_169del XP_011521620.1:p.Ala54ThrfsTer?
XM_011523317.3:c.160_169del XP_011521619.1:p.Ala54ThrfsTer?
NM_024306.5:c.160_169del MANE Select NP_077282.3:p.Ala54ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'